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- Ercan, Ayse Bahar, et al.
(author)
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Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
- 2024
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In: The Lancet Oncology. - 1470-2045. ; 25:5, s. 668-682
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Journal article (peer-reviewed)abstract
- Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries. Clinical data were extracted from the IRRDC database, medical records, and physician-completed case record forms. The primary objective was to describe the clinical features, cancer spectrum, and biology of the condition. Secondary objectives included estimations of cancer incidence and of the impact of the specific mismatch-repair gene and genotype on cancer onset and survival, including after cancer surveillance and immunotherapy interventions.We analysed data from 201 patients (103 males, 98 females) enrolled between June 5, 2007 and Sept 9, 2022. Median age at diagnosis of CMMRD or a related cancer was 8·9 years (IQR 5·9-12·6), and median follow-up from diagnosis was 7·2 years (3·6-14·8). Endogamy among minorities and closed communities contributed to high homozygosity within countries with low consanguinity. Frequent dermatological manifestations (117 [93%] of 126 patients with complete data) led to a clinical overlap with neurofibromatosis type 1 (35 [28%] of 126). 339 cancers were reported in 194 (97%) of 201 patients. The cumulative cancer incidence by age 18 years was 90% (95% CI 80-99). Median time between cancer diagnoses for patients with more than one cancer was 1·9 years (IQR 0·8-3·9). Neoplasms developed in 15 organs and included early-onset adult cancers. CNS tumours were the most frequent (173 [51%] cancers), followed by gastrointestinal (75 [22%]), haematological (61 [18%]), and other cancer types (30 [9%]). Patients with CNS tumours had the poorest overall survival rates (39% [95% CI 30-52] at 10 years from diagnosis; log-rank p<0·0001 across four cancer types), followed by those with haematological cancers (67% [55-82]), gastrointestinal cancers (89% [81-97]), and other solid tumours (96% [88-100]). All cancers showed high mutation and microsatellite indel burdens, and pathognomonic mutational signatures. MLH1 or MSH2 variants caused earlier cancer onset than PMS2 or MSH6 variants, and inferior survival (overall survival at age 15 years 63% [95% CI 55-73] for PMS2, 49% [35-68] for MSH6, 19% [6-66] for MLH1, and 0% for MSH2; p<0·0001). Frameshift or truncating variants within the same gene caused earlier cancers and inferior outcomes compared with missense variants (p<0·0001). The greater deleterious effects of MLH1 and MSH2 variants as compared with PMS2 and MSH6 variants persisted despite overall improvements in survival after surveillance or immune checkpoint inhibitor interventions.The very high cancer burden and unique genomic landscape of CMMRD highlight the benefit of comprehensive assays in timely diagnosis and precision approaches toward surveillance and immunotherapy. These data will guide the clinical management of children and patients who survive into adulthood with CMMRD.The Canadian Institutes for Health Research, Stand Up to Cancer, Children's Oncology Group National Cancer Institute Community Oncology Research Program, Canadian Cancer Society, Brain Canada, The V Foundation for Cancer Research, BioCanRx, Harry and Agnieszka Hall, Meagan's Walk, BRAINchild Canada, The LivWise Foundation, St Baldrick Foundation, Hold'em for Life, and Garron Family Cancer Center.
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- Ahmad, Alia
(author)
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Community Management of inland Fisheries in India and Bangladesh
- 2009
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Book (other academic/artistic)abstract
- Inland fisheries have the characteractics of common-pool resources such as joint consumption and subtractability of resource flows. This creates problems of management either by state authorities or private owners. In recent years, community-based fisheries management projects have become widespread in developing countries and shown considerable success. This book deals with community-based fisheries management (CBFM) in Bangladesh and a fisher cooperative (TMS) in Madhya Pradesh, India. It focuses on the impact of community management on efficiency in resource use, well-being of the poor and sustainability of the resource base.It further investiges the role of external agents in promoting sustainable community institutions.
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- Ahmad, Alia
(author)
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Decentralized Provision of Primary Healthcare in Rural Bangladesh: a study of government facilities
- 2007
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Other publication (other academic/artistic)abstract
- Bangladesh has made significant progress in health indicators in recent years in spite of her low level of income. This is mainly due to the commitment of the state supported by donors in providing preventive care with respect to child health and family planning. However, there are serious problems related to both access and quality of curative care that hurt the poor most. Infrastructures for service delivery exist at local level in rural areas but they function inefficiently. This paper deals with the systemic weaknesses of decentralized service provision of primary healthcare in Bangladesh and focuses on accountability links between different actors and functions of delegation, finance, performance, information and enforcement. The study is based on facility- and household-based data collected during 2005 in Khulna Division. The main findings of the study are: the health system in rural areas represents deconcentration rather than decentralization of central government functions where inter-sectoral discipline works poorly; local health providers are not accountable to local government, and poor citizens/clients are neither aware of their rights nor are capable of expressing their needs as effective channels do not exist.
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- Ahmad, Alia
(author)
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Provision of Primary Healthcare Services in urban areas of Bangladesh :the case of urban primary healthcare project
- 2007
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Other publication (other academic/artistic)abstract
- Primary healthcare in Bangladesh is supposed to be a public responsibility, and until recently the government has tried to provide basic services directly through its own bureaucracy. However, the public sector faces acute problems in meeting the growing needs of urban population, especially the poor. In recent years, new institutions such as partnerships with not-for-profit private organizations are sought to improve the access and quality of primary care. This paper focuses on one urban partnership project, UPHCP in Bangladesh. It analyzes the accountability relationships among different stakeholders involved in the project and cost effectiveness of contracting out. The paper finds that the accountability relationships in UPHCP are not transparent, and the programme is costly in terms of human resources because of multiple principals and agents involved compared to direct government provision. The beneficial impact of UPHCP on urban primary care is well-documented, but such institutional arrangement will have difficulties in expansion on a large scale without external assistance. Another weakness of the programme is the lack of a sense of ownership and trust in its continuity among the population that works against social accountability and client power.
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- Elbardisi, Haitham, et al.
(author)
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Geographical differences in semen characteristics of 13 892 infertile men
- 2018
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In: Arab Journal of Urology. - : Arab Association of Urology. - 2090-598X. ; 16:1, s. 3-9
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Journal article (peer-reviewed)abstract
- Objective: To assess the relationship between geographical differences and all semen parameters, across 13,892 infertile men of 84 diverse nationalities, recruited at a specialised tertiary hospital that represents the main healthcare provider in Qatar. Male infertility is an important and global public health problem. Despite this, there is a significant scarcity of epidemiological male infertility and semen analysis research in the Middle East and North Africa (MENA) region, as well as geographical comparisons with other parts of the world. Patients and methods: Retrospective study of semen findings of 13 892 infertile men assessed at the Male Infertility Unit at Hamad Medical Corporation, in Qatar between January 2012 and August 2015. Based on country of origin, patients were categorised into those from the MENA region (n = 8799) and non-MENA patients (n = 5093). The two groups were compared across demographic features and semen characteristics: age, sperm volume, sperm total motility, sperm progressive motility (PMot), abnormal sperm forms (ABF), and sperm DNA fragmentation (SDF). Results: The whole sample's mean (SD) age was 35.7 (0.7) years, sperm concentration was 32.3 (0.25) × 106 sperm/mL, total motility was 45.4 (0.2)%, sperm PMot was 25.1 (0.2)%, and ABF was 79.9 (0.2)%. Overall, 841 patients had azoospermia (6.05%), 3231 had oligospermia (23.3%), 4239 had asthenospermia (30.5%) and 6772 had teratospermia (48.7%). SDF (1050 patients) was abnormal in 333 patients (31.7%). MENA patients were significantly younger than their non-MENA counterparts and had a greater semen volume. Non-MENA patients had significantly higher sperm counts, total motility and PMot, and lower ABF. SDF showed no statistical difference between the two groups. MENA patients had significantly higher prevalence of oligospermia, asthenospermia, and teratospermia; and lower prevalence of normal sperm concentration, normal motility, and normal morphology. Throughout the 4 years of the study, MENA patients constantly had significantly lower sperm counts; generally lower sperm total motility percentage and generally lower quality sperm morphology. We compared patients by age (≤40 and >40 years): in the patients aged ≤40 years, the same results as for the overall study were reproduced; in the >40-years group, the same results were reproduced with the exception of morphology, which was not significantly different between the MENA and non-MENA patients. Conclusion: Semen quality is generally lower in male infertility patients from the MENA region compared to non-MENA regions. © 2018 Arab Association of Urology
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- Majzoub, Ahmad, et al.
(author)
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Oxidation–reduction potential and sperm DNA fragmentation, and their associations with sperm morphological anomalies amongst fertile and infertile men
- 2018
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In: Arab Journal of Urology. - : Arab Association of Urology. - 2090-598X. ; 16:1, s. 87-95
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Journal article (peer-reviewed)abstract
- Objective: To assess seminal oxidation–reduction potential (ORP) and sperm DNA fragmentation (SDF) in male infertility and their relationships with sperm morphology in fertile and infertile men. Patients and methods: Prospective case-control study comparing the findings of infertile men (n = 1168) to those of men with confirmed fertility (n = 100) regarding demographics and semen characteristics (conventional and advanced semen tests). Spearman rank correlation assessed the correlation between ORP, SDF, and different morphological indices. Means of ORP and SDF were assessed in variable levels of normal sperm morphology amongst all participants. Results: Infertile patients had a significantly lower mean sperm count (32.7 vs 58.7 × 106 sperm/mL), total motility (50.1% vs 60.4%), and normal morphology (5.7% vs 9.9%). Conversely, infertile patients had significantly higher mean head defects (54% vs 48%), and higher ORP and SDF values than fertile controls. ORP and SDF showed significant positive correlations and significant negative correlations with sperm head defects and normal morphology in infertile patients, respectively. ORP and SDF were significantly inversely associated with the level of normal sperm morphology. Using receiver operating characteristic curve analysis, ORP and SDF threshold values of 1.73 mV/106 sperm/mL and 25.5%, respectively, were associated with 76% and 56% sensitivity and 72% and 72.2% specificity, respectively, in differentiating <4% from ≥4% normal morphology. Conclusion: A direct inverse relationship exists between seminal ORP and SDF with various levels of normal sperm morphology. Using ORP and SDF measures in conjunction with standard semen morphology analysis could validate the result of the fertility status of patients. © 2017 Arab Association of Urology
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